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A leader in the Human Genome Project shares tale of personalized medicine, from 1980 until today

2559447601_005b33ae7d_zEric Lander, PhD, warned the several hundred people who came to hear him speak on the Stanford campus earlier this week that he wasn't giving a traditional data-packed scientific presentation.

Instead, the founding director of the Broad Institute and veteran of the Human Genome Project — who Google's Eric Schmidt introduced — promised to tell a story, a yarn about, as he put, the biomedicine of the East Coast meeting the technological innovation of the West Coast. (He couched the statement and admitted that yes, the West Coast does have a bit of biomedicine.)

So here goes:

Once upon a time, 35 years ago, in a land ruled by punk rock and big hair, scientists worked hard to pinpoint the genetic cause of cystic fibrosis, a disease caused by a single mutation. It was slow, hard work, but they persevered and found the gene.

Wouldn't it be wonderful to know all the human genes, some scientists speculated, buoyed by their preliminary success. Cancer could be vanquished. Genetic disorders a thing of the past. But getting to that point might take as long as 2,000 years.

Enter the Human Genome Project (HGP) in 1990. A collaborative effort of 16 research centers in six countries, the team "industrialized biology," cranking out a code for the 3 billion base pairs that make up the human genome.

Of equal importance, the HGP was advocating the importance of public access to genetic material. It faced a challenge from a rival private company, Celera, who proposed creating a subscription database with the genetic information.

The HGP also had to contend with hype, Lander said: With a banner-headline, the New York Times had proclaimed in 2000 “Genetic code of human life is cracked by scientists.”

But really, the scientists had little more than a gigantic text — ATCGGCTATATAATCG — that Lander likened to the Rosetta Stone. By comparing it with the genomes of mice, dogs, rats, cats, dolphins and many other critters, scientists worldwide were able to decipher it piece by piece.

And the project, sequencing the genome of one person, had cost $3 billion. Now, the cost of sequencing a genome has dropped to about $1,500, Lander said.

In 1990, researchers had linked genes to 70 diseases. Now the number is up to 3,600, Lander said, and he suspects an equal number remain unknown.

Thanks to technology, and large data sets, researchers are probing specific diseases like schizophrenia, connecting the genetic dots. And, rather than developing drugs using a haphazard shotgun method, researchers can pinpoint which genes offer a protective benefit by examine large data sets documenting normal human variants.

Now, the system needs a bit of work. In order to treat patients personally based on their own genes, scientists need access to huge volumes of data. “It’s only going to come by turning the health-care system into a learning system,” he said. While protecting privacy, data sharing needs to be possible, and nearly universal, he said.

Lander is an advisor to President Barack Obama and flew to Washington, D.C. yesterday to help define and enact the president’s Precision Medicine Initiative, which was introduced in January.

And as for the end of the story? That’s still to come, Lander told the audience.

“There are so many cool tools for doing this in the research laboratory,” Lander said. “But a large fraction of this cannot be done in the lab. It can only be done by including the broad human population.”

And if this is the sort of thing that grabs your interest, plan to check out the Big Data in Biomedicine Conference in May. Personalized medicine, and data science, will abound.

Previously: National Academy of Sciences recommends move toward "precision medicine", Ann Wojcicki discusses personalized medicine: "In the next 10 years everyone will have their genome" and Stanford researchers work to translate genetic discoveries into widespread personalized medicine 
Photo by MIKI Yoshihito

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